ciliopathy Joubert syndrome and related disorders Joubert syndrome CPD IV DOID:0050777 GARD:0006802 ICD10:Q04.3 JBTS Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. Joubert syndrome type A Joubert-Boltshauser syndrome MONDO:0018772 NCIT:C74996 OMIMPS:213300 Orphanet:475 SCTID:716997004 cerebellar vermis agenesis cerebelloparenchymal disorder IV classic Joubert syndrome pure Joubert syndrome malformation of the cerebellar vermis